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rs121908309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908309(C;T)
Make rs121908309(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155206068
GeneGBA
is asnp
is mentioned by
dbSNPrs121908309
ebirs121908309
HLIrs121908309
Exacrs121908309
Varsomers121908309
Maprs121908309
PheGenIrs121908309
hapmaprs121908309
1000 genomesrs121908309
hgdprs121908309
ensemblrs121908309
gopubmedrs121908309
geneviewrs121908309
scholarrs121908309
googlers121908309
pharmgkbrs121908309
gwascentralrs121908309
openSNPrs121908309
23andMers121908309
23andMe allrs121908309
SNP Nexus

SNPshotrs121908309
SNPdbers121908309
MSV3drs121908309
GWAS Ctlgrs121908309
Max Magnitude0
OMIM606463
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121908309(T;T)
Alt rs121908309(T;T)
Reference rs121908309(C;C)
Significance Pathogenic
Disease Gaucher disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206068G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004570.2, RCV000079334.3, RCV000180538.1,